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Discovery of a MET-driven monogenic cause of steatotic liver disease.
Hepatology
January 2025
Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
Background Aims: Metabolic dysfunction-associated steatotic liver disease (MASLD) affects about a third of adults worldwide and is projected soon to be the leading cause of cirrhosis. It occurs when fat accumulates in hepatocytes and can progress to metabolic dysfunction-associated steatohepatitis (MASH), liver cirrhosis, and hepatocellular carcinoma. MASLD pathogenesis is believed to involve a combination of genetic and environmental risk factors.
View Article and Find Full Text PDFEstablishment of a human ovarian endometrioid carcinoma cell line by constitutive expression of cyclin-dependent kinase 4, cyclin D1 and telomerase reverse transcriptase.
Hum Cell
January 2025
Department of Tumor Pathology, Faculty of Medical Sciences, University of Fukui, 23-3 Matsuoka-Shimoaizuki, Eiheiji, Fukui, 910-1193, Japan.
Only a few human ovarian endometrioid carcinoma cell lines are currently available, partly due to the difficulty of establishing cell lines from low-grade cancers. Here, using a cell immortalization strategy consisting of i) inactivation of the p16-pRb pathway by constitutive expression of mutant cyclin-dependent kinase 4 (R24C) (CDK4) and cyclin D1, and ii) acquisition of telomerase reverse transcriptase (TERT) activity, we established a human ovarian endometrioid carcinoma cell line from a 46-year-old Japanese woman. That line, designated JFE-21, has proliferated continuously for over 6 months with a doubling time of ~ 55 h.
View Article and Find Full Text PDFAtypical parathyroid tumor: A rare cause of primary hyperparathyroidism in an adolescent.
Arch Argent Pediatr
January 2025
Hospital Italiano de Buenos Aires, City of Buenos Aires, Argentina.
Hyperparathyroidism is a rare entity in pediatrics. It is defined as the increased production of parathyroid hormone. It may be due to a primary defect of the parathyroid glands (primary hyperparathyroidism) or to a compensatory parathyroid hormone production to correct hypocalcemia states of various origins (secondary hyperparathyroidism).
View Article and Find Full Text PDFJAK2 V617F Mutation Leading to Portal Vein Thrombosis in a Young Patient: A Case Report.
Cureus
December 2024
Radiodiagnosis, Malla Reddy Medical College for Women, Hyderabad, IND.
Myeloproliferative neoplasms (MPNs) are clonal hematopoietic stem cell disorders commonly characterized by excessive production of blood cell lineages. The JAK2 V617F mutation plays a crucial role in the pathogenesis of these conditions, often leading to thrombotic complications. Here, we present the case of a 21-year-old man who presented with acute abdominal pain and was found to have portal vein thrombosis with splenomegaly.
View Article and Find Full Text PDFOut of Sight, Not Out of Mind: Vulval Fibroadenoma Revealed.
Cureus
December 2024
Department of Surgery, Vardhman Mahavir Medical College (VMMC) & Safdarjung Hospital, New Delhi, IND.
Ectopic breast tissue (EBT) represents a congenital anomaly caused by incomplete regression of mammary ridges at the time of embryonic development. Typically, EBT presents along the mammary line, although usually in the axillary region, it has been located occasionally in unusual sites such as the vulva. Though relatively rare, it is generally subject to a wide range of pathologies that afflict normal breast tissue, encompassing both benign and malignant transformations.
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